Persones / Equip Humà

Délia Yubero Siles

Buscador de publicacions

Publicacions

  • Gaudó P, Emperador S, Garrido-Pérez N, Ruiz-Pesini E, Yubero-Siles D, Garcia-Cazorla A, Artuch-Iriberri R, Montoya C and Bayona-Bafaluy MP.

    Infectious stress triggers a POLG-related mitochondrial disease

    Neurogenetics . 21(1): 19-27. Nº de cites: 5

    [doi:10.1007/s10048-019-00593-2]

  • Pillai NR, Yubero-Siles D, Shayota BJ, De Oyarzabal-Sanz AL, Ghosh R, Sun Q, Azamian MS, Arjona-Fernandez C, Brandi-Tarrau N, Palau F, Lalani SR, Artuch-Iriberri R, Garcia-Cazorla A and Scott DA.

    Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(12): 2459-2468. Nº de cites: 8

    [doi:10.1002/ajmg.a.61357]

  • Zouvelou V, Yubero-Siles D, Apostolakopoulou L, Kokkinou E, Bilanakis M, Dalivigka Z, Nikas I, Kollia E, Pérez-Dueñas B, Macaya A, Marcé-Grau A, Voutetakis A, Anagnostopoulou K, Kekou K, Sofocleus C, Veltra D, Kokkinis X, Fryssira H, Torres RJ, Amstrong J, Santorelli FM, Artuch-Iriberri R and Pons R.

    The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 23(3): 427-437. Nº de cites: 18

    [doi:10.1016/j.ejpn.2019.02.001]

  • Montero-Sanchez R, Yubero-Siles D, Salgado MC, González MJ, Campistol-Plana J, O'Callaghan-Gordo M, Pineda M, Delgadillo V, Maynou-Fernández J, Fernandez-Isern G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.

    Plasma coenzyme Q10 status is impaired in selected genetic conditions

    SCIENTIFIC REPORTS . 9: 793-793. Nº de cites: 26

    [doi:10.1038/s41598-018-37542-2]

  • Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.

    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

    Journal of Clinical Medicine . 8(1): . Nº de cites: 12

    [doi:10.3390/jcm8010068]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Nº de cites: 9

    [doi:10.1007/s10545-018-0224-x]

  • Yubero-Siles D and Artuch-Iriberri R.

    NGS for Metabolic Disease Diagnosis.

    ejifcc . 29(3): 227-229. Nº de cites: 3

  • Martinez-Monseny T, Bolasell M, Arjona-Fernandez C, Martorell-Sampol L, Yubero-Siles D, Armstrong-Moron J, Maynou-Fernández J, Fernandez-Isern G, Del Carmen Salgado M, Palau F and Serrano M.

    Mutation of PACS1: the milder end of the spectrum

    CLINICAL DYSMORPHOLOGY . 27(4): 148-150. Nº de cites: 16

    [doi:10.1097/MCD.0000000000000237]

  • Cortés-Saladelafont E, Molero M, Cuadras-Palleja D, Casado-Rio M, Armstrong-Moron J, Yubero-Siles D, Montoya J, Artuch-Iriberri R and Garcia-Cazorla A.

    Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 60(8): 780-792. Nº de cites: 7

    [doi:10.1111/dmcn.13746]

  • Yubero-Siles D, Montero-Sanchez R, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.

    Molecular diagnosis of coenzyme Q10 deficiency: an update

    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 18(6): 491-498. Nº de cites: 20

    [doi:10.1080/14737159.2018.1478290]